Hs06667671_cn

• Gene Symbol: ATP2B2
• Assay Reference Genome Location: Chr.3:10336967 on build GRCh38
• Cytoband: 3p25.3

Target Gene Details

• Entrez Gene ID: 491
• Gene Name: ATPase plasma membrane Ca2+ transporting 2
• Gene Aliases: PMCA2, PMCA2a, PMCA2i
• Location: Chr.3:10324023-10707962 on Build GRCh38
• Assay Gene Location: Within Intron 29

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP2B2	NM_001001331.2			NP_001001331.1
	NM_001683.3			NP_001674.2
	XM_005265179.4			XP_005265236.1
	XM_006713175.3			XP_006713238.1
	XM_011533752.2			XP_011532054.1
	XM_017006481.1			XP_016861970.1
	XM_017006482.1			XP_016861971.1
	XM_017006483.1			XP_016861972.1
	XM_017006484.1			XP_016861973.1
	XM_017006485.1			XP_016861974.1
	XM_017006486.1			XP_016861975.1
	XM_017006487.1			XP_016861976.1
	XM_017006488.1			XP_016861977.1
	XM_017006489.1			XP_016861978.1
	XM_017006490.1			XP_016861979.1
	XM_017006491.1			XP_016861980.1
	XM_017006492.1			XP_016861981.1
	AB210008.1
	DQ201777.1
	DQ201778.1
	L00620.1			AAA51893.1
	L20977.1			AAA50877.1
	M97260.1			AAA36456.1
	S95758.1			AAA08376.1
	X63575.1			CAA45131.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv436362	Chr.3:10048344 - 11860564 on Build GRCh38	Deletion	HRH1 IRAK2 VHL TATDN2 ATP2B2-IT2 MIR885 VGLL4 LOC101927467 GHRL TAMM41 BRK1 ATG7 GHRLOS LINC00606 SLC6A11 LINC00852 ATP2B2 FANCD2OS SLC6A1-AS1 FANCD2 SEC13 MIR378B SLC6A1
nsv508903	Chr.3:10275353 - 10401894 on Build GRCh38	Insertion	GHRLOS LINC00852 ATP2B2 TATDN2 MIR885 SEC13 MIR378B GHRL
dgv762e201	Chr.3:10008967 - 11913136 on Build GRCh38	Deletion	TATDN2 VGLL4 LOC101927467 EMC3 GHRL TAMM41 BRK1 CIDECP SLC6A11 FANCD2P2 SLC6A1-AS1 SEC13 MIR378B LOC401052 HRH1 IRAK2 VHL ATP2B2-IT2 MIR885 ATG7 GHRLOS LINC00606 LINC00852 ATP2B2 FANCD2OS FANCD2 SLC6A1
nsv1121603	Chr.3:10071433 - 11889279 on Build GRCh38	Deletion	HRH1 IRAK2 VHL TATDN2 ATP2B2-IT2 MIR885 VGLL4 LOC101927467 GHRL TAMM41 BRK1 ATG7 GHRLOS LINC00606 SLC6A11 FANCD2P2 LINC00852 ATP2B2 FANCD2OS SLC6A1-AS1 FANCD2 SEC13 MIR378B SLC6A1
nsv436869	Chr.3:10064456 - 11877985 on Build GRCh38	Insertion	HRH1 IRAK2 VHL TATDN2 ATP2B2-IT2 MIR885 VGLL4 LOC101927467 GHRL TAMM41 BRK1 ATG7 GHRLOS LINC00606 SLC6A11 FANCD2P2 LINC00852 ATP2B2 FANCD2OS SLC6A1-AS1 FANCD2 SEC13 MIR378B SLC6A1
nsv1073204	Chr.3:9996548 - 11875005 on Build GRCh38	Deletion	TATDN2 VGLL4 LOC101927467 EMC3 GHRL TAMM41 BRK1 CIDECP SLC6A11 FANCD2P2 SLC6A1-AS1 SEC13 MIR378B LOC401052 HRH1 IRAK2 VHL ATP2B2-IT2 MIR885 ATG7 GHRLOS LINC00606 LINC00852 ATP2B2 FANCD2OS EMC3-AS1 FANCD2 SLC6A1

More Information

Additional Information:

For this assay, SNP(s) [rs79849400] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

transport
calcium ion transport
organelle organization
lactation
sensory perception of sound
locomotory behavior
regulation of cell size
cerebellar Purkinje cell differentiation
cerebellar granule cell differentiation
neuron differentiation
ion transmembrane transport
locomotion
serotonin metabolic process
otolith mineralization
cGMP metabolic process
regulation of synaptic plasticity
synapse organization
neuromuscular process controlling balance
detection of mechanical stimulus involved in sensory perception of sound
regulation of cytosolic calcium ion concentration
positive regulation of calcium ion transport
auditory receptor cell stereocilium organization
calcium ion transmembrane transport
cochlea development
regulation of cardiac conduction

Function(s)

calcium-transporting ATPase activity
protein binding
calmodulin binding
ATP binding
calcium-dependent ATPase activity
metal ion binding